Detalhe da pesquisa
1.
Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.
EMBO J
; 37(23)2018 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30420557
2.
The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.
Brain
; 142(6): 1547-1560, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31081514
3.
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
Int J Mol Sci
; 21(11)2020 May 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-32471306
4.
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
Hum Mol Genet
; 24(12): 3418-26, 2015 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25765662
5.
Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.
Brain
; 137(Pt 9): 2429-43, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24951643
6.
Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect.
Am J Hum Genet
; 88(2): 162-72, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310273
7.
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
Brain
; 140(8): e46, 2017 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28637197
8.
Congenital myasthenic syndromes: achievements and limitations of phenotype-guided gene-after-gene sequencing in diagnostic practice: a study of 680 patients.
Hum Mutat
; 33(10): 1474-84, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678886
9.
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
J Neurol
; 266(5): 1107-1112, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30767057
10.
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
Cell Rep
; 26(13): 3484-3492.e4, 2019 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30917305
11.
Congenital myasthenic syndrome with episodic apnoea: clinical, neurophysiological and genetic features in the long-term follow-up of 19 patients.
J Neurol
; 265(1): 194-203, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-29189923
12.
Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(7): 803-8, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26005867
13.
Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK.
Neuromuscul Disord
; 24(1): 31-5, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24183479
14.
Cardiac differentiation in Xenopus is initiated by mespa.
Cardiovasc Res
; 97(3): 454-63, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23241315
15.
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome.
J Neurol
; 259(3): 474-81, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21822932
16.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
J Neurol
; 259(5): 838-50, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975507
17.
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
Nat Genet
; 47(8): 962, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26220135